ClinVar Miner

List of variants in gene ADAMTS13 reported as benign

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Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_139027.6(ADAMTS13):c.686+74= rs3118668 0.99542
NM_139027.6(ADAMTS13):c.1968+210= rs651625 0.96605
NM_139027.6(ADAMTS13):c.3910-342A>G rs4962153 0.79091
NM_139027.6(ADAMTS13):c.173-67T>C rs2285489 0.68092
NM_139027.6(ADAMTS13):c.2731+77G>A rs652600 0.66100
NM_139027.6(ADAMTS13):c.2280T>C (p.Gly760=) rs3124767 0.59530
NM_139027.6(ADAMTS13):c.1716G>A (p.Thr572=) rs3124768 0.57502
NM_139027.6(ADAMTS13):c.420T>C (p.Ala140=) rs3118667 0.47777
NM_139027.6(ADAMTS13):c.2731+739G>T rs671410 0.44413
NM_139027.6(ADAMTS13):c.1787-26= rs2073932 0.42354
NM_139027.6(ADAMTS13):c.1585-113T>C rs2028002 0.31871
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) rs2301612 0.31482
NM_139027.6(ADAMTS13):c.1436-186T>C rs3780809 0.31440
NM_139027.6(ADAMTS13):c.1584+106C>G rs2028003 0.31194
NM_139027.6(ADAMTS13):c.1308+252C>T rs28517680 0.31163
NM_139027.6(ADAMTS13):c.2862-227C>G rs2301613 0.28062
NM_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=) rs1055432 0.26164
NM_139027.6(ADAMTS13):c.1786+161G>C rs2073934 0.25568
NM_139027.6(ADAMTS13):c.1787-190A>G rs2073933 0.25539
NM_139027.6(ADAMTS13):c.686+156A>T rs28757785 0.25174
NM_139027.6(ADAMTS13):c.3045-249G>C rs36222576 0.24932
NM_139027.6(ADAMTS13):c.2420+114C>G rs28446901 0.18105
NM_139027.6(ADAMTS13):c.988-302= rs3118671 0.14089
NM_139027.6(ADAMTS13):c.2861+55C>T rs2769073 0.12651
NM_139027.6(ADAMTS13):c.2699C>T (p.Ala900Val) rs685523 0.10882
NM_139027.6(ADAMTS13):c.1969-112A>G rs602184 0.10269
NM_139027.6(ADAMTS13):c.1706-255G>C rs647172 0.10253
NM_139027.6(ADAMTS13):c.19C>T (p.Arg7Trp) rs34024143 0.09518
NM_139027.6(ADAMTS13):c.987+11C>T rs28729234 0.09160
NM_139027.6(ADAMTS13):c.2421-143A>T rs592514 0.08862
NM_139027.6(ADAMTS13):c.1705+298G>A rs649078 0.07048
NM_139027.6(ADAMTS13):c.1968+92C>G rs28645493 0.06928
NM_139027.6(ADAMTS13):c.3909+32T>C rs3094374 0.06065
NM_139027.6(ADAMTS13):c.1092+67G>A rs35516997 0.05931
NM_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala) rs28647808 0.05902
NM_139027.6(ADAMTS13):c.1092+319T>G rs71503194 0.05801
NM_139027.6(ADAMTS13):c.686+4T>G rs36219245 0.05749
NM_139027.6(ADAMTS13):c.582C>T (p.Gly194=) rs34054981 0.05724
NM_139027.6(ADAMTS13):c.1435+133G>A rs36220241 0.05701
NM_139027.6(ADAMTS13):c.354G>A (p.Pro118=) rs28571612 0.05636
NC_000009.12:g.133421761G>A rs34785487 0.05609
NM_139027.6(ADAMTS13):c.173-48G>A rs35194094 0.05607
NM_139027.6(ADAMTS13):c.173-18C>T rs35410697 0.04598
NM_139027.6(ADAMTS13):c.2611-262T>A rs36221585 0.04219
NM_139027.6(ADAMTS13):c.2611-147G>A rs36221587 0.04200
NM_139027.6(ADAMTS13):c.987+313T>G rs36219896 0.03896
NM_139027.6(ADAMTS13):c.1436-272C>T rs36220584 0.03843
NM_139027.6(ADAMTS13):c.825-170T>C rs36219561 0.03827
NM_139027.6(ADAMTS13):c.2862-272G>C rs36221911 0.03756
NM_139027.6(ADAMTS13):c.173-211C>G rs7872815 0.03673
NM_139027.6(ADAMTS13):c.2421-217A>C rs28408693 0.03364
NM_139027.6(ADAMTS13):c.3108G>A (p.Ser1036=) rs34934621 0.03291
NM_139027.6(ADAMTS13):c.3045-41G>A rs34100568 0.03287
NM_139027.6(ADAMTS13):c.3045-48T>C rs36023469 0.03287
NM_139027.6(ADAMTS13):c.2731+232C>T rs36221592 0.03258
NM_139027.6(ADAMTS13):c.2910C>T (p.Val970=) rs28641026 0.03155
NM_139027.6(ADAMTS13):c.3097G>A (p.Ala1033Thr) rs28503257 0.03107
NM_139027.6(ADAMTS13):c.1309-204G>A rs36220235 0.03001
NM_139027.6(ADAMTS13):c.1968+43T>C rs36221220 0.02891
NM_139027.6(ADAMTS13):c.331-42T>C rs2301611 0.02743
NM_139027.6(ADAMTS13):c.1092+283G>A rs36219898 0.02358
NM_139027.6(ADAMTS13):c.2235-163A>G rs36221452 0.02299
NM_139027.6(ADAMTS13):c.1874G>A (p.Arg625His) rs36090624 0.02177
NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His) rs36220239 0.01611
NM_139027.6(ADAMTS13):c.936C>T (p.Arg312=) rs36219562 0.01608
NM_139027.6(ADAMTS13):c.2508T>C (p.Asp836=) rs36221472 0.01405
NM_139027.6(ADAMTS13):c.2218G>A (p.Glu740Lys) rs36221451 0.01123
NM_139027.6(ADAMTS13):c.1797C>T (p.Ile599=) rs36221216 0.01122
NM_139027.6(ADAMTS13):c.540-33G>A rs36218903 0.01059
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) rs41314453 0.01000
NM_139027.6(ADAMTS13):c.3250-19T>C rs36222582 0.00936
NM_139027.6(ADAMTS13):c.3678G>A (p.Val1226=) rs36222899 0.00845
NM_139027.6(ADAMTS13):c.1022C>T (p.Pro341Leu) rs115943536 0.00832
NM_139027.6(ADAMTS13):c.1830C>T (p.Ser610=) rs36221217 0.00759
NM_139027.6(ADAMTS13):c.357C>T (p.Ser119=) rs147563206 0.00731
NM_139027.6(ADAMTS13):c.*168C>T rs142792179 0.00610
NM_139027.6(ADAMTS13):c.3287G>A (p.Arg1096His) rs61751476 0.00571
NM_139027.6(ADAMTS13):c.1787-7C>T rs144432149 0.00493
NM_139027.6(ADAMTS13):c.2494G>A (p.Val832Met) rs34104386 0.00463
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met) rs141932927 0.00458
NM_139027.6(ADAMTS13):c.1786+16G>A rs36220948 0.00349
NM_139027.6(ADAMTS13):c.1705+14C>T rs191816433 0.00342
NM_139027.6(ADAMTS13):c.2611-19T>C rs202206149 0.00321
NM_139027.6(ADAMTS13):c.3509C>T (p.Thr1170Ile) rs36222894 0.00314
NM_139027.6(ADAMTS13):c.3171G>A (p.Ala1057=) rs36222580 0.00268
NM_139027.6(ADAMTS13):c.3150G>A (p.Val1050=) rs36222579 0.00262
NM_139027.6(ADAMTS13):c.1705+7G>A rs78739717 0.00233
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_139027.6(ADAMTS13):c.1016C>G (p.Thr339Arg) rs149517360 0.00141
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_139027.6(ADAMTS13):c.3400+141G>A rs192619276 0.00076
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met) rs374606481 0.00039
NM_139027.6(ADAMTS13):c.546C>T (p.Asp182=) rs148849381 0.00018
NM_139027.6(ADAMTS13):c.3773C>T (p.Ser1258Leu) rs142060916 0.00016
NM_139027.6(ADAMTS13):c.539+7G>A rs184864675 0.00014
NM_139027.6(ADAMTS13):c.3400+23C>T rs200547311 0.00010
NM_139027.6(ADAMTS13):c.3159G>A (p.Ala1053=) rs200349242 0.00004
GRCh37/hg19 9q34.2(chr9:136291361-136316040)x1
NM_139027.6(ADAMTS13):c.106-144del rs71281254
NM_139027.6(ADAMTS13):c.106-145_106-144del rs71281254
NM_139027.6(ADAMTS13):c.1137C>T (p.Pro379=)
NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys) rs142214608
NM_139027.6(ADAMTS13):c.1245-32=
NM_139027.6(ADAMTS13):c.1308+17G>T
NM_139027.6(ADAMTS13):c.1308+19dup
NM_139027.6(ADAMTS13):c.1691C>A (p.Ala564Asp)
NM_139027.6(ADAMTS13):c.1705+16C>G
NM_139027.6(ADAMTS13):c.1716= (p.Thr572=)
NM_139027.6(ADAMTS13):c.173-149A>G rs7031011
NM_139027.6(ADAMTS13):c.1899C>T (p.Thr633=)
NM_139027.6(ADAMTS13):c.2280= (p.Gly760=)
NM_139027.6(ADAMTS13):c.2732-20T>G
NM_139027.6(ADAMTS13):c.2976C>T (p.Asp992=)
NM_139027.6(ADAMTS13):c.3250-12C>T
NM_139027.6(ADAMTS13):c.3400+112C>T
NM_139027.6(ADAMTS13):c.3910-251G>C rs4962050
NM_139027.6(ADAMTS13):c.3910-270A>T rs3094373
NM_139027.6(ADAMTS13):c.420= (p.Ala140=)
NM_139027.6(ADAMTS13):c.686+129G>A rs28515121
NM_139027.6(ADAMTS13):c.987+69A>C rs3124773

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